Canonical Allele Identifier: CA2410564785

Gene: ALG12

Linked Data

• ClinVar Variation Id: 2995991
• ClinVar RCV Id: RCV003854078
• dbSNP Id: rs2060592285
• gnomAD v4: 22-49913525-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913525G>A , CM000684.2:g.49913525G>A	GRCh38
NC_000022.10:g.50307173G>A , CM000684.1:g.50307173G>A	GRCh37
NC_000022.9:g.48693177G>A	NCBI36
NG_008927.1:g.9934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.163-8C>T MANE Select	ENSP00000333813.5:n.163-8C>T
ENST00000330817.10:c.163-8C>T	ENSP00000333813.5:n.163-8C>T
NM_024105.3:c.163-8C>T	NP_077010.1:n.163-8C>T
XM_011530369.1:c.163-8C>T	XP_011528671.1:n.163-8C>T
XM_011530370.1:c.163-8C>T	XP_011528672.1:n.163-8C>T
XM_011530371.1:c.163-8C>T	XP_011528673.1:n.163-8C>T
XM_011530371.2:c.163-8C>T	XP_011528673.1:n.163-8C>T
XM_017028936.1:c.163-8C>T	XP_016884425.1:n.163-8C>T
XM_017028937.1:c.163-8C>T	XP_016884426.1:n.163-8C>T
NM_024105.4:c.163-8C>T MANE Select	NP_077010.1:n.163-8C>T